Search

Author/Creator Raskin, Salmo

1. 'Pseudo‐Dominant' Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family. Issue 4 (30th September 2014)

Authors:
Moro, Adriana; Martinez, Alberto R.M.; Karuta, Simone C.V.; Munhoz, Renato P.; Moscovich, Mariana; Germiniani, Francisco M.B.; Arruda, Walter O.; Raskin, Salmo; Teive, Hélio A.G.
Journal:
Movement disorders clinical practice
Issue:
Volume 1:Issue 4(2014)
Page Start:
361
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Issue 8 (9th July 2013)

Authors:
Zechi‐Ceide, Roseli Maria; Moura, Priscila Padilha; Raskin, Salmo; Richieri‐Costa, Antonio; Guion‐Almeida, Maria Leine
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 8(2013:Aug.)
Page Start:
2088
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Issue 5 (7th February 2023)

Authors:
Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L.; Lee, Paul C.; Zhang, Li Q.; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L.; Mononen, Tarj...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1227
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. (September 2020)

Authors:
Meira, Alex Tiburtino; Arruda, Walter Oleschko; Ono, Sergio Eiji; Franklin, Gustavo Leite; de Carvalho Neto, Arnolfo; Raskin, Salmo; Ashizawa, Tetsuo; Camargo, Carlos Henrique F.; Teive, Hélio A.G.
Journal:
Parkinsonism & related disorders
Issue:
Volume 78(2020)
Page Start:
73
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. (July 2020)

Authors:
Arruda, Walter Oleschko; Meira, Alex Tiburtino; Ono, Sergio Eiji; de Carvalho Neto, Arnolfo; Ferreira, Matheus Gomes; Raskin, Salmo; Ferreira Camargo, Carlos Henrique; Ashizawa, Tetsuo; Ghizoni Teive, Hélio Afonso
Journal:
Parkinsonism & related disorders
Issue:
Volume 76(2020)
Page Start:
76
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗